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Clinical Manifestations Survey

In February 2020, researchers from the Albert Einstein College of Medicine conducted the first formal survey of the clinical manifestations associated with mutations in the gene KDM5C. The survey results can be downloaded from here. You can watch presentations about the results here. An academic paper based on the survey is available here.


The Wellcome Sanger Institute publishes a list of phenotypes present in multiple matching KDM5C patients who participated in the Deciphering Developmental Disabilities study.

Anecdotal reports

Members of the KDM5C Support Group Facebook Group report a range of symptoms. Remember symptoms are on a spectrum in terms of occurrence and severity:

Reported by almost everyone

Reported by many

Reported by some


The Dutch website Kinderneurologie.eu has a section on KDM5C which is based on a review of scientific literature. An English translation can be downloaded from here.